Allele Registry

Canonical Allele Identifier: PA645418053

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000268123

RCV000323216

RCV000353537

ClinVar Variation:

292979

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Ala1640Gly	CA1182494 NM_003126.2:c.4919C>G